Lucas Azevedo, a vibrant four-year-old who loves playing with cars and trains, faces unique challenges as he navigates a rare genetic condition. Despite his infectious smile and active nature, Lucas struggles with standing unsupported and speech difficulties, a mystery that had puzzled his parents and doctors until a recent breakthrough.
In November, genetic testing at Mackenzie Health uncovered a rare disorder linked to both copies of Lucas’ RBM28 gene. He is now just the second child globally known to have this condition, leaving his family with more questions than answers. While the diagnosis offers some relief, it also presents a daunting reality as there is limited research or information available on this rare genetic anomaly.
Sophia and Victor Azevedo, Lucas’ parents, express a mix of emotions as they grapple with the uncertainties surrounding their son’s condition. The newfound clarity sheds light on the underlying issue, yet the unknown future implications weigh heavily on their minds.
In their quest for a solution, the Azevedo family has learned about a promising gene therapy, specifically the Adeno-associated virus (AAV) vector-based gene therapy. This innovative treatment involves reprogramming a genetically modified virus to deliver therapeutic DNA into cells, offering a glimmer of hope for Lucas’s condition.
While this cutting-edge therapy holds potential, the expertise and resources required are primarily based in the United States. Establishing a research study and developing a tailored treatment plan for Lucas come at a hefty cost of approximately US$1.2 million, with an initial investment of over $210,000 to kickstart the process.
To bridge this financial gap, the family launched a Gofundme campaign in early January, rallying support from generous donors who have contributed over $134,000 towards the cause. Despite the challenges ahead, the Azevedo family remains steadfast in their determination to secure the necessary funds for Lucas’s treatment.
As they navigate this uncertain journey, Lucas continues to receive care at SickKids and undergo intensive physiotherapy to maintain his mobility while awaiting potential advancements in treatment options.